RESUMEN
Improved understanding of the phenotypic spectrum associated with nonsyndromic orofacial clefting (OFC) has the potential to inform efforts to uncover the etiology of this complex trait. Prior studies report that individuals with OFC are characterized by impaired olfactory ability. In this study, we test whether olfactory dysfunction extends to the unaffected parents of children with OFC. The University of Pennsylvania Smell Identification Test was used to measure olfactory ability in a sample of 60 unaffected mothers and fathers with cleft-affected children. The proportion of deficit was compared with reference data obtained from published sex- and age-specific norms on more than 2700 individuals. The proportion of deficit was significantly higher in unaffected parents compared with baseline control subjects (41.7% vs 12.6%; P < 0.001). Of unaffected fathers, 41.7% displayed evidence of deficit compared with 15.1% of male control subjects (P = 0.001), whereas 41.7% of mothers exhibited deficits compared with 10.4% of female control subjects (P < 0.001). Olfactory deficits are present at a high proportion in the unaffected parents of individuals with OFC. This suggests that the deficits observed in affected cases may not simply be a secondary consequence of surgical repair and may instead be an informative phenotype reflecting underlying etiology.
Asunto(s)
Labio Leporino/genética , Fisura del Paladar/genética , Trastornos del Olfato/genética , Padres , Adulto , Estudios de Casos y Controles , Padre , Femenino , Humanos , Masculino , Madres , Fenotipo , Olfato/fisiología , FumarRESUMEN
Nonsyndromic cleft lip +/- cleft palate (CL/P) is a complex trait of unknown etiology. Most genetic studies of CL/P define affection status in a way that ignores subtle subclinical manifestations, resulting in a potential loss of statistical power. This study investigated 10 candidate genes in 155 individuals from 25 Guatemalan CL/P families. High-resolution ultrasound images of the orbicularis oris (OO) muscle were obtained. CL/P was present in 28 family members; an additional 10 had subcutaneous OO muscle defects. Family-based association studies were performed for both narrow (CL/P only) and broad (CL/P plus OO muscle defects) definitions of affection status. PVRL1 was significantly associated under both definitions (P = 0.04, narrow; P = 0.02, broad). Association with JAG2 improved from P = 0.09 under the narrow definition to P = 0.04 under the broad definition. Broadening the oral-facial cleft phenotype to include subclinical variants may improve power in genetic studies.
Asunto(s)
Labio Leporino/etnología , Labio Leporino/genética , Fisura del Paladar/etnología , Fisura del Paladar/genética , Receptores de Estrógenos/genética , Aberraciones Cromosómicas , Labio Leporino/cirugía , Fisura del Paladar/cirugía , Guatemala , HumanosRESUMEN
Se presenta la escrofulosis desde una perspectiva histórica recalcando su importancia en la era de infección por el VIH. Se repasa la epidemiología de esta enfermedad micobacteriana y el rol de las micobacterias no tuberculosas y M. tuberculosis. Se discuten las alternativas diagnósticas y terapéuticas